PMC Links for Gene (Select 55624) - PMC

Links from Gene

Items: 1 to 20 of 33

<< First< Prev

Page of 2

Select item 79947891.

Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell–cell adhesion

Sina Ibne Noor, Marcus Hoffmann, Natalie Rinis, Markus F. Bartels, Patrick R. Winterhalter, Christina Hoelscher, René Hennig, Nastassja Himmelreich, Christian Thiel, Thomas Ruppert, Erdmann Rapp, Sabine Strahl

J Biol Chem. 2021 Jan-Jun; 296: 100433. Published online 2021 Feb 18. doi: 10.1016/j.jbc.2021.100433

PMCID:: PMC7994789

Abstract Article PDF–2.8M

Select item 55392512.

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

Xiaona Fu, Haipo Yang, Hui Jiao, Shuo Wang, Aijie Liu, Xiaoqing Li, Jiangxi Xiao, Yanling Yang, Xiru Wu, Hui Xiong

Sci Rep. 2017; 7: 7056. Published online 2017 Aug 1. doi: 10.1038/s41598-017-07349-8

PMCID:: PMC5539251

Abstract Article PDF–1.9M

Select item 34211253.

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O

Madalina Raducu, Jonathan Baets, Oihane Fano, Rudy Van Coster, Jesús Cruces

Eur J Hum Genet. 2012 Sep; 20(9): 945–952. Published online 2012 Mar 14. doi: 10.1038/ejhg.2012.40

PMCID:: PMC3421125

Abstract Article PDF–623K

Select item 17355944.

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

C Diesen, A Saarinen, H Pihko, C Rosenlew, B Cormand, W Dobyns, J Dieguez, L Valanne, T Joensuu, A Lehesjoki

J Med Genet. 2004 Oct; 41(10): e115. doi: 10.1136/jmg.2004.020701

PMCID:: PMC1735594

Summary PDF–145K

Select item 13777105.

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.

B Cormand, K Avela, H Pihko, P Santavuori, B Talim, H Topaloglu, A de la Chapelle, A E Lehesjoki

Am J Hum Genet. 1999 Jan; 64(1): 126–135. doi: 10.1086/302206

PMCID:: PMC1377710

Summary PDF–450K

Select item 49959846.

Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan

Naoyuki Kuwabara, Hiroshi Manya, Takeyuki Yamada, Hiroaki Tateno, Motoi Kanagawa, Kazuhiro Kobayashi, Keiko Akasaka-Manya, Yuriko Hirose, Mamoru Mizuno, Mitsunori Ikeguchi, Tatsushi Toda, Jun Hirabayashi, Toshiya Senda, Tamao Endo, Ryuichi Kato

Proc Natl Acad Sci U S A. 2016 Aug 16; 113(33): 9280–9285. Published online 2016 Aug 4. doi: 10.1073/pnas.1525545113

PMCID:: PMC4995984

Abstract Article PDF–1.0M

Select item 48053087.

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Mingchu Xu, Takeyuki Yamada, Zixi Sun, Aiden Eblimit, Irma Lopez, Feng Wang, Hiroshi Manya, Shan Xu, Li Zhao, Yumei Li, Adva Kimchi, Dror Sharon, Ruifang Sui, Tamao Endo, Robert K. Koenekoop, Rui Chen

Hum Mol Genet. 2016 Apr 15; 25(8): 1479–1488. Published online 2016 Jan 28. doi: 10.1093/hmg/ddw022

PMCID:: PMC4805308

Abstract Article PDF–650K

Select item 40315318.

Golgi Phosphoprotein 3 Mediates the Golgi Localization and Function of Protein O-Linked Mannose β-1,2-N-Acetlyglucosaminyltransferase 1

Natasha A. Pereira, Helen X. Pu, Hazel Goh, Zhiwei Song

J Biol Chem. 2014 May 23; 289(21): 14762–14770. Published online 2014 Apr 14. doi: 10.1074/jbc.M114.548305

PMCID:: PMC4031531

Abstract Article PDF–1.1M

Select item 34055329.

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

S. Saredi, A. Ardissone, A. Ruggieri, E. Mottarelli, L. Farina, R. Rinaldi, E. Silvestri, C. Gandioli, S. D'Arrigo, F. Salerno, L. Morandi, P. Grammatico, C. Pantaleoni, I. Moroni, M. Mora

J Neurol Sci. 2012 Jul 15; 318(1-2): 45–50. doi: 10.1016/j.jns.2012.04.008

PMCID:: PMC3405532

Abstract Article

Select item 313388110.

Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease

Josef Voglmeir, Sara Kaloo, Nicolas Laurent, Marco M. Meloni, Lisa Bohlmann, Iain B. H. Wilson, Sabine L. Flitsch

Biochem J. 2011 Jun 1; 436(Pt 2): 447–455. Prepublished online 2011 Mar 1. Published online 2011 May 13. doi: 10.1042/BJ20101059

PMCID:: PMC3133881

Abstract Article PDF–1.1M

Select item 122229011.

Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I.

Wenli Zhang, Doron Betel, Harry Schachter

Biochem J. 2002 Jan 1; 361(Pt 1): 153–162. doi: 10.1042/0264-6021:3610153

PMCID:: PMC1222290

Summary PDF–221K

Select item 979661212.

Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole‐exome sequencing in three fetuses with congenital hydrocephalus

Meng Li, Huayu Fu, Jiao Li, Dahua Meng, Qiang Zhang, Dongmei Fei

J Obstet Gynaecol Res. 2022 Oct; 48(10): 2624–2629. Published online 2022 Jul 17. doi: 10.1111/jog.15358

PMCID:: PMC9796612

Abstract Article PDF–2.3M

Select item 842126713.

GOLPH3 and GOLPH3L are broad-spectrum COPI adaptors for sorting into intra-Golgi transport vesicles

Lawrence G. Welch, Sew-Yeu Peak-Chew, Farida Begum, Tim J. Stevens, Sean Munro

J Cell Biol. 2021 Oct 4; 220(10): e202106115. Published online 2021 Sep 2. doi: 10.1083/jcb.202106115

PMCID:: PMC8421267

Abstract Article PDF–5.4M

Select item 903755414.

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy

Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell

Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116

PMCID:: PMC9037554

Abstract Article PDF–4.1M

Select item 631495715.

An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders

Siwei Chen, Robert Fragoza, Lambertus Klei, Yuan Liu, Jiebiao Wang, Kathryn Roeder, Bernie Devlin, Haiyuan Yu

Nat Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Nat Genet. 2018 Jul; 50(7): 1032–1040. Published online 2018 Jun 11. doi: 10.1038/s41588-018-0130-z

PMCID:: PMC6314957

Abstract Article PDF–1.3M

Select item 1626716.

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags

Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson

Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491

PMCID:: PMC16267

Abstract Article PDF–111K

Select item 316943217.

Protein interactome reveals converging molecular pathways among autism disorders

Yasunari Sakai, Chad A. Shaw, Brian C. Dawson, Diana V. Dugas, Zaina Al-Mohtaseb, David E. Hill, Huda Y. Zoghbi

Sci Transl Med. Author manuscript; available in PMC 2011 Dec 8.

Published in final edited form as: Sci Transl Med. 2011 Jun 8; 3(86): 86ra49. doi: 10.1126/scitranslmed.3002166

PMCID:: PMC3169432

Abstract Article PDF–6.0M

Select item 40369718.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Abstract Article PDF–120K

Select item 926261419.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 923162320.

ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1

Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen

Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119

PMCID:: PMC9231623

Abstract Article PDF–6.0M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 33

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity